Dravet Syndrome, a rare and severe form of epilepsy

UCB is committed to helping families living with Dravet syndrome, a devastating and life-long condition that begins in infancy.

Dravet syndrome and other rare forms of epilepsy have a significant impact on the quality of life of patients and their families. If not identified early and treated appropriately, these conditions can lead to a higher mortality rate than in the general epilepsy population.

We are working to identify new solutions for people living with these rare and severe forms of epilepsy to ensure that they, and their families, have access to the care they need.

Discover more about Dravet Syndrome

Understanding Dravet Syndrome

Dravet syndrome is a severe form of epilepsy marked by frequent treatment-resistant seizures; significant cognitive, behavioral and motor impairments that persist into adulthood; and an increased risk of premature mortality.

Seizures generally begin in infancy, between 3 and 9 months. Initial seizures often begin when an infant has a fever or has been exposed to high heat, such as a bath.At the onset of the disease, people with Dravet syndrome typically experience hemiclonic seizures (affecting one side of the body) or generalized tonic-clonic seizures. After 12 months of age, they typically experience other types of seizures, and these may change over time.

Dravet syndrome is a Developmental and Epileptic Encephalopathy (DEE) — a group of epilepsies where there is developmental impairment influenced by both the underlying cause of the epilepsy and the epileptic activity itself. Developmental challenges often become more apparent at age 1 or 2 and may include issues with delayed language and speech, growth, sleep, movement, infections, sensory integration, orthopedic conditions, and nervous system disruptions. As they grow older, most children with Dravet syndrome develop a crouch gait.

More than 80% of people diagnosed with Dravet syndrome have a mutation in the SCN1A gene. This mutation, which usually is not inherited, affects how ion channels operate in the brain. Not all SCN1A mutations lead to Dravet syndrome, and Dravet syndrome is sometimes associated with other gene mutations.

Diagnosing Dravet Syndrome

Neurologists diagnose Dravet syndrome based on clinical presentation in combination with genetic testing. Typically, infants with Dravet syndrome:

  • Exhibit normal cognitive and motor development before their first seizure
  • Experience a first seizure before their first birthday, often triggered by high temperature
  • Have at least two prolonged seizures lasting longer than 10 minutes
  • Experience hemiclonic, myoclonic, or generalized tonic-clonic seizures
  • Fail to respond to first-line antiepileptic drug therapy

It’s important to diagnose children early, in order to begin appropriate treatment, but diagnosing Dravet syndrome in children can be difficult. Performing genetic testing, including the search for mutations in the SCN1A gene or other genes associated with epilepsy, is recommended.

Treatment

While it is difficult to control seizures in Dravet syndrome cases, antiseizure medicines can help reduce seizure frequency and maximize quality of life for the patient and their family. Healthcare providers look to find the ideal combination of seizure medications. Early treatment response may alleviate some of the consequences of recurrent seizures.

Non-pharmacological treatments, such as ketogenic diet, which is low in carbohydrates and high in fats, can be also considered.

Healthcare providers must also manage the different comorbidities. People with Dravet syndrome should be managed by a multidisciplinary professional team. 

Research

Today, researchers have a better understanding of the genetic mutations that can cause Dravet syndrome and are exploring potential treatments, including new medicines and gene therapy.

Dravet syndrome has a dramatic impact on both patients and their families, who may experience a range of challenges, and we are committed to doing our part to give them the access to the care they need.  

Additional Resources

Patient getting brain scan

Read about our commitment to unleashing the power of digital innovation and enabling solutions that allow patients to live the lives they choose, now and in the future.

UCB's Digital Business Transformation
Neurons

Learn more about Dravet syndrome and the Dravet Syndrome Foundation’s effort to fund research, raise awareness, and provide support to affected families.

The Dravet Syndrome Foundation

Learn about epilepsy and the Epilepsy Foundation’s mission to raise awareness, advocate for people with epilepsy, and fund epilepsy research.

The Epilepsy Foundation

References

  1. Lagae L, et al. Quality of Life and Comorbidities Associated with Dravet Syndrome Severity: a Multinational Cohort Survey. Dev Med Child Neurol. 2018 Jan;60(1):63-72. 
  2. Wirrell EC, et al. Optimizing the Diagnosis and Management of Dravet Syndrome: Recommendations From a North American Consensus Panel. Pediatr Neurol. 2017 Mar;68:18-34.e3
  3. Zuberi SM, et al. ILAE classification and definition of epilepsy syndromes with onset in neonates and infants: Position statement by the ILAE Task Force on Nosology and 4. Definitions. Epilepsia. 2022;63(6):1349-1397.
  4. Dravet Syndrome Foundation. What is Dravet Syndrome? Accessed August 10, 2022 at https://dravetfoundation.org/what-is-dravet-syndrome/
  5. National Institute of Neurological Disorders and Stroke. Dravet Syndrome. Accessed August 10, 2022 at https://www.ninds.nih.gov/health-information/disorders/dravet-syndrome 
  6. Children’s Hospital of Philadelphia. Dravet Syndrome. Accessed October 24, 2022 at https://www.chop.edu/conditions-diseases/dravet-syndrome 
  7. Epilepsy Foundation. Dravet Syndrome. Accessed August 10, 2022 at https://www.epilepsy.com/what-is-epilepsy/syndromes/dravet-syndrome
  8. Wu YW, et al. Incidence of Dravet Syndrome in a US Population. Pediatrics. 2015 Nov;136(5): e1310–e1315
  9. Wirrell EC, et al. International consensus on diagnosis and management of Dravet syndrome. Epilepsia. 2022 Jul;63(7):1761-1777
  10. Cardenal-Munoz E, et al. Guidance on Dravet syndrome from infant to adult care: Road map for treatment planning in Europe. Epilepsia Open. 2022 Mar;7(1):11-26